Mutagenetix > Incidental Mutation

Incidental Mutation 'R6855:Poglut2'

535171

Institutional Source

Beutler Lab

Gene Symbol

Poglut2

Ensembl Gene

ENSMUSG00000026047

Gene Name

protein O-glucosyltransferase 2

Synonyms

5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik

MMRRC Submission

045024-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R6855 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44145706-44157968 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 44149987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 401 (E401*)

Ref Sequence

ENSEMBL: ENSMUSP00000064500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000065767] [ENSMUST00000152643]

AlphaFold

Q9JHP7

Predicted Effect

probably benign
Transcript: ENSMUST00000027213

SMART Domains

Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	130	3.16e-16	SMART
CAP10	226	400	1.65e-51	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000065767
AA Change: E401*

SMART Domains

Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: E401*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	130	3.16e-16	SMART
CAP10	226	470	4.81e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152643

SMART Domains

Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	133	9.21e-18	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,114,844 (GRCm39)	S228F	probably damaging	Het
Cdh23	A	T	10: 60,141,901 (GRCm39)	M3062K	possibly damaging	Het
Cdh8	G	C	8: 99,916,849 (GRCm39)	S422C	probably damaging	Het
Col15a1	G	T	4: 47,245,544 (GRCm39)	K98N	probably damaging	Het
Cyp3a57	T	A	5: 145,309,376 (GRCm39)	L238H	probably damaging	Het
Dchs2	G	A	3: 83,255,501 (GRCm39)	R2399H	probably benign	Het
Dennd4c	A	C	4: 86,754,694 (GRCm39)	H1568P	probably benign	Het
Dkk2	T	G	3: 131,883,683 (GRCm39)	C194W	probably damaging	Het
Dnm2	C	T	9: 21,387,881 (GRCm39)	R369C	probably damaging	Het
Efcab7	T	G	4: 99,757,777 (GRCm39)	L308*	probably null	Het
Elp2	T	A	18: 24,739,934 (GRCm39)	N53K	possibly damaging	Het
Eml6	T	C	11: 29,701,381 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,468,286 (GRCm39)	E913*	probably null	Het
Fam186a	T	A	15: 99,852,756 (GRCm39)	Y154F	unknown	Het
Fhl3	G	A	4: 124,601,315 (GRCm39)	D113N	probably benign	Het
Fryl	A	T	5: 73,216,843 (GRCm39)	M2149K	probably damaging	Het
Gbf1	T	C	19: 46,268,380 (GRCm39)	Y1251H	probably benign	Het
Ghitm	C	A	14: 36,847,859 (GRCm39)	G262W	probably null	Het
Gm14325	T	A	2: 177,474,635 (GRCm39)	H148L	probably damaging	Het
Grxcr1	C	A	5: 68,189,437 (GRCm39)	N69K	possibly damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrp1b	G	C	2: 40,518,708 (GRCm39)	H175D	possibly damaging	Het
Lrrc2	T	A	9: 110,782,250 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,904,151 (GRCm39)	F291L	probably benign	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Nfil3	T	A	13: 53,122,641 (GRCm39)	K88*	probably null	Het
Nit1	A	C	1: 171,171,130 (GRCm39)	V194G	probably damaging	Het
Nup210	T	C	6: 91,017,835 (GRCm39)	M1052V	probably benign	Het
Nup210l	A	G	3: 90,044,231 (GRCm39)	T511A	probably benign	Het
Nwd2	G	T	5: 63,961,794 (GRCm39)	M459I	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,513 (GRCm39)	N3D	probably benign	Het
Peg3	A	C	7: 6,711,797 (GRCm39)	S1142A	probably benign	Het
Phf3	T	A	1: 30,859,204 (GRCm39)	K959N	probably damaging	Het
Piezo2	C	T	18: 63,223,950 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,764,036 (GRCm39)	I365V	possibly damaging	Het
Plec	T	A	15: 76,070,818 (GRCm39)	Q860L	probably damaging	Het
Ppp5c	T	G	7: 16,740,891 (GRCm39)	D359A	possibly damaging	Het
Pvr	C	T	7: 19,643,139 (GRCm39)	A365T	possibly damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rasa3	A	T	8: 13,635,029 (GRCm39)	L430Q	probably damaging	Het
Rims2	T	G	15: 39,208,911 (GRCm39)	V198G	probably benign	Het
Rnf38	C	T	4: 44,149,224 (GRCm39)	R41H	probably damaging	Het
Rptn	G	A	3: 93,305,558 (GRCm39)	V964I	probably benign	Het
Rrp1b	A	G	17: 32,271,719 (GRCm39)	D263G	probably benign	Het
Sgip1	T	C	4: 102,819,573 (GRCm39)	C560R	probably damaging	Het
Shisal2b	T	C	13: 105,000,214 (GRCm39)	Q3R	probably benign	Het
Sidt1	A	C	16: 44,065,706 (GRCm39)	I734S	probably null	Het
Ssh1	G	T	5: 114,080,636 (GRCm39)	D931E	probably damaging	Het
Thumpd2	C	A	17: 81,351,599 (GRCm39)	R274I	probably damaging	Het
Tpi1	T	C	6: 124,789,426 (GRCm39)	D183G	probably damaging	Het
Trnt1	T	A	6: 106,754,883 (GRCm39)	Y205N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,235 (GRCm39)	V376M	probably damaging	Het
Usp34	T	C	11: 23,402,569 (GRCm39)	V2454A	possibly damaging	Het
Uspl1	C	A	5: 149,124,655 (GRCm39)	S24Y	probably damaging	Het
Vmn1r58	A	C	7: 5,413,451 (GRCm39)	W260G	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfp868	A	C	8: 70,064,230 (GRCm39)	H368Q	probably damaging	Het

Other mutations in Poglut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Poglut2	APN	1	44,150,094 (GRCm39)	missense	probably damaging	1.00
IGL03185:Poglut2	APN	1	44,156,359 (GRCm39)	missense	probably benign	0.05
R0480:Poglut2	UTSW	1	44,149,917 (GRCm39)	nonsense	probably null
R4617:Poglut2	UTSW	1	44,149,180 (GRCm39)	missense	probably damaging	0.99
R5534:Poglut2	UTSW	1	44,151,837 (GRCm39)	missense	probably damaging	1.00
R5884:Poglut2	UTSW	1	44,156,260 (GRCm39)	missense	probably benign	0.00
R6044:Poglut2	UTSW	1	44,153,611 (GRCm39)	nonsense	probably null
R6755:Poglut2	UTSW	1	44,149,894 (GRCm39)	critical splice donor site	probably null
R6955:Poglut2	UTSW	1	44,156,257 (GRCm39)	missense	probably damaging	1.00
R7755:Poglut2	UTSW	1	44,157,733 (GRCm39)	unclassified	probably benign
R8144:Poglut2	UTSW	1	44,149,966 (GRCm39)	missense	probably damaging	1.00
R8245:Poglut2	UTSW	1	44,156,226 (GRCm39)	missense	probably benign	0.02
R8993:Poglut2	UTSW	1	44,151,924 (GRCm39)	missense	possibly damaging	0.83
R9023:Poglut2	UTSW	1	44,153,925 (GRCm39)	missense	possibly damaging	0.49
R9081:Poglut2	UTSW	1	44,153,966 (GRCm39)	missense	probably benign	0.19
R9300:Poglut2	UTSW	1	44,156,362 (GRCm39)	missense	possibly damaging	0.67
R9634:Poglut2	UTSW	1	44,152,196 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAACATCCCAGAGTCTAGGC -3'
(R):5'- AAAGTCAGTCTGAGGATGGC -3'

Sequencing Primer
(F):5'- ATCCCAGAGTCTAGGCGTGTTC -3'
(R):5'- TCTGAGGATGGCAAAATGGTTC -3'

Posted On

2018-09-12